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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SLC33A1 Gene

protein-coding   GIFtS: 61
GCID: GC03M155544

Solute Carrier Family 33 (Acetyl-CoA Transporter), Member...

(Previous names: acetyl-Coenzyme A transporter, spastic paraplegia 42 (autosomal...)
(Previous symbols: ACATN, SPG42)
Alzheimer's & Parkinson's Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Solute Carrier Family 33 (Acetyl-CoA Transporter), Member 11 2     Spastic Paraplegia 42 (Autosomal Dominant)1
ACATN1 2 3 5     CCHLND2
AT12 3 5     Acetyl-Coenzyme A Transporter 12
SPG421 2     Acetyl-CoA Transporter 13
AT-12 3     Solute Carrier Family 33 Member 13
Acetyl-Coenzyme A Transporter1     

External Ids:    HGNC: 951   Entrez Gene: 91972   Ensembl: ENSG000001693597   OMIM: 6036905   UniProtKB: O004003   

Export aliases for SLC33A1 gene to outside databases

Previous GC identifers: GC03M156390 GC03M156825 GC03M156865 GC03M156866 GC03M157027 GC03M152938


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SLC33A1 Gene:
The protein encoded by this gene is required for the formation of O-acetylated (Ac) gangliosides. The encoded
protein is predicted to contain 6 to 10 transmembrane domains, and a leucine zipper motif in transmembrane domain
III. Defects in this gene have been reported to cause spastic paraplegia autosomal dominant type 42 (SPG42) in
one Chinese family, but not in similar patients of European descent. Two transcript variants encoding the same
protein have been found for this gene. (provided by RefSeq, Jul 2010)

GeneCards Summary for SLC33A1 Gene: 
SLC33A1 (solute carrier family 33 (acetyl-CoA transporter), member 1) is a protein-coding gene. Diseases associated with SLC33A1 include spastic paraplegia 42, and aceruloplasminemia, and among its related super-pathways are Glycosphingolipid biosynthesis - ganglio series and Transmembrane transport of small molecules. GO annotations related to this gene include acetyl-CoA transporter activity.

UniProtKB/Swiss-Prot: ACATN_HUMAN, O00400
Function: Probable acetyl-CoA transporter necessary for O-acetylation of gangliosides




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.2  NT_005612.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SLC33A1 gene promoter:
         E2F-4   E2F-3a   E2F-5   E2F-1   E2F   p53   E2F-2   C/EBPalpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC33A1 promoter sequence
   Search SABiosciences Chromatin IP Primers for SLC33A1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC33A1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q25.31   Ensembl cytogenetic band:  3q25.31   HGNC cytogenetic band: 3q25.31

SLC33A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC33A1 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M155544:  view genomic region     (about GC identifiers)

Start:
155,544,300 bp from pter      End:
155,572,248 bp from pter
Size:
27,949 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ACATN_HUMAN, O00400 (See protein sequence)
Recommended Name: Acetyl-coenzyme A transporter 1  
Size: 549 amino acids; 60909 Da
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein (Probable)
Secondary accessions: B2R5Q2 D3DNK4

Explore the universe of human proteins at neXtProt for SLC33A1: NX_O00400

Explore proteomics data for SLC33A1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O00400

  • SLC33A1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SLC33A1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001177921.1  NP_004724.1  

    ENSEMBL proteins: 
     ENSP00000376587   ENSP00000352456   ENSP00000419066   ENSP00000419165   ENSP00000418847  
    Reactome Protein details: O00400
    Human Recombinant Protein Products for SLC33A1: 
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    Browse Sino Biological Cell Lysates 
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    Cloud-Clone Corp. Proteins for SLC33A1 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0005887integral to plasma membrane TAS9096318
    GO:0016020membrane TAS9096318
    GO:0016021integral to membrane ----

    SLC33A1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    SLC: Solute carriers

    IUPHAR Guide to PHARMACOLOGY protein family classification: AcetylCoA transporter 
    SLC33 acetylCoA transporter

    3 InterPro protein domains:
     IPR004752 AmpG_permease/AT-1
     IPR024371 Acetyl-CoA_trnpstr_1
     IPR016196 MFS_dom_general_subst_transpt

    Graphical View of Domain Structure for InterPro Entry O00400

    ProtoNet protein and cluster: O00400

    UniProtKB/Swiss-Prot: ACATN_HUMAN, O00400
    Similarity: Belongs to the SLC33A transporter family


    SLC33A1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ACATN_HUMAN, O00400
    Function: Probable acetyl-CoA transporter necessary for O-acetylation of gangliosides

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008521acetyl-CoA transporter activity IEA--
         
    SLC33A1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SLC33A1:
     Increased G1 DNA content 

    Animal Models:
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SLC33A1 
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SLC33A1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Ganglio Sphingolipid Metabolism
    Glycosphingolipid biosynthesis - ganglio series0.53
    Ganglio Sphingolipid Metabolism0.53
    2SLC-mediated transmembrane transport
    SLC-mediated transmembrane transport0.50
    Transmembrane transport of small molecules0.50
    3Metabolism
    Metabolic pathways0.40
    4Transport of organic anions
    Transport of vitamins, nucleosides, and related molecules0.34

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for SLC33A1
        Ganglio Sphingolipid Metabolism

    3        Reactome Pathways for SLC33A1
        SLC-mediated transmembrane transport
    Transmembrane transport of small molecules
    Transport of vitamins, nucleosides, and related molecules


    2         Kegg Pathways  (Kegg details for SLC33A1):
        Glycosphingolipid biosynthesis - ganglio series
    Metabolic pathways


    SLC33A1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SLC33A1

    STRING Interaction Network Preview (showing 5 interactants - click image to see more details)

    5/7 Interacting proteins for SLC33A1 (O004003 ENSP000003524564) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HSP90AA1P079003I2D: score=2 
    PAPD5Q8NDF83I2D: score=1 
    B4GALNT1ENSP000003415624STRING: ENSP00000341562
    ST8SIA1ENSP000003793534STRING: ENSP00000379353
    ST8SIA5ENSP000003213434STRING: ENSP00000321343
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport TAS9096318
    GO:0008219cell death IEA--
    GO:0015876acetyl-CoA transport TAS9096318
    GO:0055085transmembrane transport TAS--

    SLC33A1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SLC33A1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SLC33A1 (ACATN)

    1 HMDB Compound for SLC33A1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Acetyl-CoAS-Acetyl coenzyme A (see all 13)72-89-9--

    1 IUPHAR Ligand for SLC33A1 (AcetylCoA transporter)    About this table 
    LigandTypeActionAffinityPubmed IDs
    [14C]acetylCoA
    NoneNone--

    1 Novoseek inferred chemical compound relationship for SLC33A1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    acetyl-coa 80.4 15 19061983 (3), 12739170 (2), 17620987 (2), 10965123 (2) (see all 7)

    Search CenterWatch for drugs/clinical trials and news about SLC33A1 / ACATN

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SLC33A1 gene (2 alternative transcripts): 
    NM_001190992.1  NM_004733.3  

    Unigene Cluster for SLC33A1:

    Solute carrier family 33 (acetyl-CoA transporter), member 1
    Hs.478031  [show with all ESTs]
    Unigene Representative Sequence: NM_004733
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000392845(uc003fao.2) ENST00000359479(uc003fan.4) ENST00000475842
    ENST00000496772 ENST00000468581 ENST00000460729

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    Additional mRNA sequence: 

    AK130481.1 AK312268.1 BC014416.1 D88152.1 

    8 DOTS entries:

    DT.99975387  DT.444376  DT.100779208  DT.100675156  DT.95277021  DT.101979337  DT.91842197  DT.95277019 

    24/215 AceView cDNA sequences (see all 215):

    CD671863 AI953999 BQ774178 AA878711 H11286 AU103920 BF196176 CR622424 
    AL042742 AI784090 BE328112 AL044679 BF062222 BE551202 CB044066 AI276719 
    AA830892 BM128266 BC014416 BU675959 BX110971 AU279889 AI435531 BE222130 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for SLC33A1    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d ^ 8
    SP1:                                                        -         
    SP2:                                                                  
    SP3:              -                                                   
    SP4:        -     -                                                   
    SP5:                    -     -                                       


    ECgene alternative splicing isoforms for SLC33A1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SLC33A1 expression in normal human tissues (normalized intensities)      SLC33A1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TATTAGAGTC
    SLC33A1 Expression
    About this image


    SLC33A1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Brain (Nervous System)    fully expand to see all 16 entries
             Thalamus
             Septum   
     
     Lung (Respiratory System)
             trachea   
     
     Uterus (Reproductive System)
             endometrial endothelial cell   
     
     Spinal Cord (Nervous System)
             Dorsal Horn   

    See SLC33A1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC33A1

    SOURCE GeneReport for Unigene cluster: Hs.478031

    UniProtKB/Swiss-Prot: ACATN_HUMAN, O00400
    Tissue specificity: Ubiquitous. Detected in heart, brain, placenta, lung, liver, skeletal muscle, kidney and
    pancreas. With strongest signals in pancreas

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC33A1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for SLC33A1 gene from 8/22 species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc33a11 , 5 solute carrier family 33 (acetyl-CoA transporter), more1, 5 87.8(n)1
    93.62(a)1
      3 (30.08 cM)5
    114161  NM_015728.41  NP_056543.21 
     639335075 
    chicken
    (Gallus gallus)
    Aves SLC33A11 solute carrier family 33 (acetyl-CoA transporter), more 73.88(n)
    81.83(a)
      425029  XM_422831.3  XP_422831.1 
    lizard
    (Anolis carolinensis)
    Reptilia SLC33A16
    Uncharacterized protein
    80(a)
    1 ↔ 1
    3(15839636-15853662)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.309492 Xenopus laevis transcribed sequence with moderate similarity more 77.25(n)    48033166 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc636932 similar to solute carrier family 33 (acetyl-CoA transporter), more 75.26(n)   394083  BC055208.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG97061 CG9706 54.31(n)
    52.71(a)
      39876  NM_168684.2  NP_730198.1 
    worm
    (Caenorhabditis elegans)
    Secernentea T26C5.31 Protein T26C5.3 54.74(n)
    51.94(a)
      259455  NM_001027199.3  NP_001022370.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes (YBR220C)4
    YBR220C1
    Putative protein of unknown function; YBR220C is not more4
    hypothetical protein1
    45.26(n)1
    35.79(a)1
      2(664677-662995)4
    8525211, 4  NP_009779.31  NP_009779.14 


    ENSEMBL Gene Tree for SLC33A1 (if available)
    TreeFam Gene Tree for SLC33A1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SLC33A1 gene

    SLC33A1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for SLC33A1
    PGOHUM00000249417


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/689 SNPs in SLC33A1 are shown (see all 689)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0357764
    A colorectal cancer sample4--see VAR_0357762 V A mis40--------
    VAR_0548504
    Spastic paraplegia 42, autosomal dominant (SPG42)4--see VAR_0548502 S R mis40--------
    rs1998310941,2
    C--152951705(-) GTAGAC/TTTTTT 2 -- int10--------
    rs2010865901,2
    --152955327(+) AAAAA-/AAGTCAAC 2 -- int10--------
    rs1433700671,2
    C--152962209(+) CTCAG-/AAT   
      AATAAT
    AATAA
    2 -- int10--------
    rs1879550541,2
    --155525551(+) CTTCAA/GGTCAT 2 -- ds50010--------
    rs1442342511,2
    --155525762(+) AGCTAC/GTCAGA 2 -- ds50010--------
    rs1924348991,2
    --155525773(+) GGACTA/GGGGCA 2 -- ds50010--------
    rs67756311,2
    C,F,A,H--155525804(+) gaggcG/Agaggt 2 -- ds50014Minor allele frequency- A:0.50NA WA 12
    rs1410904611,2
    --155525840(+) GTACTC/TCAGCC 2 -- ds50010--------

    HapMap Linkage Disequilibrium report for SLC33A1 (155544300 - 155572248 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for SLC33A1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv877681CNV Loss21882294
    nsv877680CNV Gain21882294


    Human Gene Mutation Database (HGMD): SLC33A1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC33A1
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC33A1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 603690   
    OMIM disorders: 612539  
    UniProtKB/Swiss-Prot: ACATN_HUMAN, O00400
  • Spastic paraplegia 42, autosomal dominant (SPG42) [MIM:612539]: A form of spastic paraplegia, a
    neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower
    limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include
    difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking.
    In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness
    may spread to other parts of the body. Note=The disease is caused by mutations affecting the gene represented in
    this entry
  • Congenital cataracts, hearing loss, and neurodegeneration (CCHLND) [MIM:614482]: An autosomal recessive
    disorder characterized by congenital cataracts, severe psychomotor retardation, and hearing loss associated with
    decreased serum ceruloplasmin and copper. Brain MRI shows cerebral and cerebellar atrophy and hypomyelination.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 10 diseases for SLC33A1:    About MalaCards
    spastic paraplegia 42    aceruloplasminemia    paraplegia    spasticity
    menkes disease    lateral sclerosis    amyotrophic lateral sclerosis    cataract
    cerebritis    neuronitis

    1 disease from the University of Copenhagen DISEASES database for SLC33A1:
    Paraplegia

    SLC33A1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    1 Novoseek inferred disease relationship for SLC33A1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    amyotrophic lateral sclerosis 53.2 2 17620987 (2)

    Genetic Association Database (GAD): SLC33A1
    Human Genome Epidemiology (HuGE) Navigator: SLC33A1 (1 document)

    Export disorders for SLC33A1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SLC33A1 gene, integrated from 9 sources (see all 26):
    (articles sorted by number of sources associating them with SLC33A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Expression cloning and characterization of a cDNA encoding a novel membrane protein required for the formation of O-acetylated gangliosides: a putative acetyl CoA transporter. (PubMed id 9096318)1, 2, 3, 9 Kanamori A.... Hirabayashi Y. (1997)
    2. A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42). (PubMed id 19061983)1, 2, 3, 9 Lin P.... Gong Y. (2008)
    3. Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin. (PubMed id 22243965)1, 2 Huppke P.... Gartner J. (2012)
    4. A total of 220 patients with autosomal dominant spast ic paraplegia do not display mutations in the SLC33A1 gene (SPG42). (PubMed id 20461110)1, 4 Schlipf N.A....SchAPls L. (2010)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    6. The acetyl-CoA transporter family SLC33. (PubMed id 12739170)1, 9 Hirabayashi Y....Nomura K. (2004)
    7. The proteomic analysis of endogenous FAT10 substrates identifies p62/SQSTM1 as a substrate of FAT10ylation. (PubMed id 22797925)1 Aichem A....Groettrup M. (2012)
    8. SLC33A1/AT-1 protein regulates the induction of autoph agy downstream of IRE1/XBP1 pathway. (PubMed id 22787145)1 Pehar M....Puglielli L. (2012)
    9. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    10. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
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    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 9197 HGNC: 95 AceView: SLC33A1 Ensembl:ENSG00000169359 euGenes: HUgn9197
    ECgene: SLC33A1 Kegg: 9197 H-InvDB: SLC33A1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SLC33A1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SLC33A1 gene:
    Search GeneIP for patents involving SLC33A1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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